Today on a whim I decided to do some research about my sons condition. I learned a lot and have affirmed some things I already knew. There are two types of genetic mutations CPT I and CPT II. Jasz is in the CPT II category. Within that category there are three groups under which symptoms manifest. The age of onset is largely determined by the individual person. Often there is something that triggers the onset, as someone can have the mutation but go asymptomatic their entire life. One article I read believes the number of people with the mutation is actually much higher than recorded but two factors prevent an accurate count: Many Dr.'s know nothing about it so when an adult develops symptoms they diagnose them with Chronic Fatigue or Fibromyalgia, and secondly, many go asymptomatic until something triggers it so they have it but have no symptoms so it's not tested for. Several different articles indicate that prolonged exercise, fasting, dehydration and viral infection can all be triggers for onset of symptoms. well let's see Jasz seemed to develop normally until about 6 months of age, Dr. carter stated that at the beginning. What happened at 6 months....oh yeah we got the Swine Flu...hmmmm.
The scary thing is it seems as though Jasz' variety is contained within his skeletal muscles but since he hasn't had a muscle biopsy and specific genetic testing that may not be entirely true. I believe from what I read and what Dr. Carter told me that if it did affect other systems he would be throwing protein from his kidney's. She tested him for that and he was not throwing protein from his kidney's. The GI tract is often affected with all three varieties. The research I read showed many times the initial symptom is heart failure (see list of related links on the right side of my blog), and they are beginning to think that some SIDS may be a result of CPT II.
Some states have begun to expand their newborn screening to include CPTI and CPTII testing. In those states they have found when a newborn tests positive and they then test the mother she will test positive as well. Hmmm....makes me think.
I have linked the research I found to my blog because it's just too much to type out and why when someone else already has.